Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.

NCT07095062 | Recruiting

• 2 other identifiers: 233-24ANV 2025-28
• Study Type: interventional
• Target: 30
• Locations: 1 country
• Sites: 1

Brief Summary

Prospective, exploratory, multicenter pilot study investigating the structural and functional connectome in patients with Friedreich's Ataxia (FRDA) using high-density electroencephalogram (HD-EEG). The aim is to identify neurophysiological biomarkers and analyze the relationship between cortical connectivity, cognitive functioning, and clinical severity, particularly in response to rehabilitation treatment.

Conditions

Friedreich's Ataxia; Motor Disorders

Keywords

Functional Connectivity; HD-EEG; FRDA; Connectome; Cognitive Functioning; Neurodegenerative Disease; Cerebellar Disorders; Neurophysiological Biomarkers; Friedreich Ataxia

Outcome Measures

Primary Outcomes (2)

• Connectivity profile derived from HD-EEG in subjects with FRDA.

  Characterization of alterations in the connectome derived from the HD-EEG of subjects with FRDA compared with matched controls;

  From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up

• Functional activity derived from HD-EEG in subjects with FRDA.

  Evaluation of functional connectivity as a biomarker in the evolution of FRDA

  From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up

Secondary Outcomes (1)

• Correlation between functional connectivity/activity and quantitative parameters derived from neuropsychological scales. Correlation between functional connectivity/activity and quantitative parameters derived from motor scales (SARA and mFARS).

  From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up

Study Arms (1)

Patients with Friedreich's ataxia undergoing HD-EEG and neurofunctional rehabilitation.

EXPERIMENTAL

This arm includes patients with a confirmed genetic diagnosis of Friedreich's Ataxia (FRDA), aged between 8 and 60 years, with SARA scale scores below 30. Participants undergo high-density electroencephalogram (HD-EEG) recording under resting conditions and during a motor task, as well as a comprehensive neuropsychological and emotional assessment. All follow an intensive rehabilitation program lasting 3-4 weeks. HD-EEG recordings are repeated after treatment and one year later to assess longitudinal changes in functional connectivity and identify potential biomarkers associated with clinical progression.

Device: HD-EEG recordings, combined with cognitive and motor assessment

Interventions

HD-EEG recordings, combined with cognitive and motor assessment DEVICE

Participants will undergo high-density EEG (HD-EEG) recordings under two conditions: at rest and while performing an upper limb motor task. The data obtained will be used to reconstruct source cortical activity and derive patterns of functional connectivity, using advanced neurophysiological analysis techniques, including the Avalanche Transition Matrix (ATM). In addition, patients will complete a neuropsychological assessment and participate in an intensive multidisciplinary rehabilitation program lasting 3 to 4 weeks, depending on age. The intervention aims to assess changes in the functional organization of the brain before and after treatment, as well as one year later, in order to explore potential biomarkers of disease progression.

Patients with Friedreich's ataxia undergoing HD-EEG and neurofunctional rehabilitation.

Eligibility Criteria

• Age: 8 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• age between 8 and 60 years;
• genetic diagnosis of FRDA: presence of guanine-adenine trinucleotide (GAA) expansion in the two alleles of the fratassin gene, GAA1 and GAA2;
• score on the Scale for the Assessment and Rating of Ataxia (SARA) \< 30;
• ability to take part in a neuropsychological assessment in Italian.

You may not qualify if:

• age different from the range 8-60 years;
• diagnosis of acquired ataxia or other genetic ataxias;
• SARA scale score ≥ 30;
• inability to take part in an Italian-language neuropsychological assessment

Sponsors & Collaborators

• IRCCS Eugenio Medea: lead

Study Sites (1)

IRCCS Eugenio Medea / Associazione la Nostra Famiglia

Conegliano, Treviso, 31015, Italy

RECRUITING

MeSH Terms

Conditions

Friedreich Ataxia; Motor Disorders; Neurodegenerative Diseases; Cerebellar Diseases

Condition Hierarchy (Ancestors)

Spinocerebellar Degenerations; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mitochondrial Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Mental Disorders

Study Officials

• Gabriella Paparella, Medical Doctor

  IRCCS E. Medea / Associazione la Nostra Famiglia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Gabriella Paparella, Medical Degree

CONTACT

+39 04389062; gabriella.paparella@lanostrafamiglia.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 2, 2025
• First Posted: July 31, 2025
• Study Start: July 7, 2025
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: July 31, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR, ANALYTIC CODE
• Time Frame: Start date: January 2028 End date: January 2038
• Access Criteria: Any researchers accredited by non-profit clinical and research center

Locations

IT (1)